Multiple congenital anomalies, thymic dysplasia, severe congenital heart disease, and oligosyndactyly with a deletion of the short arm of chromosome 5

Abstract

A female infant was born at term with congenital anomalies and a deletion of the short arm of chromosome 5. The anomalies included thymic dysplasia and lymphocyte-depleted nodes of the type seen in combined immune deficiency; atrial and ventricular septal defects, pulmonary valve atresia, and anomalous pulmonary-bronchial communication through the lungs; and shortness of forearms with syndactyly of fingers. A review indicates that the association of cardiac lesions, thymic dysplasia, oligosyndactyly and deletion of chromosome 5p is unique.